From HPO
Autoamputation of digits- MedGen UID:
- 343770
- •Concept ID:
- C1852289
- •
- Finding
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.
Abnormal autonomic nervous system physiology- MedGen UID:
- 8511
- •Concept ID:
- C0013363
- •
- Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Self-mutilation- MedGen UID:
- 19925
- •Concept ID:
- C0036601
- •
- Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
Emotional lability- MedGen UID:
- 39319
- •Concept ID:
- C0085633
- •
- Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Pain insensitivity- MedGen UID:
- 488855
- •Concept ID:
- C0344307
- •
- Finding
Inability to perceive painful stimuli.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Postural hypotension with compensatory tachycardia- MedGen UID:
- 376790
- •Concept ID:
- C1850438
- •
- Finding
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Decreased number of small peripheral myelinated nerve fibers- MedGen UID:
- 870470
- •Concept ID:
- C4024916
- •
- Finding
Neuropathic arthropathy- MedGen UID:
- 13919
- •Concept ID:
- C0003892
- •
- Disease or Syndrome
Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
Corneal scarring- MedGen UID:
- 83899
- •Concept ID:
- C0349702
- •
- Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Keratitis- MedGen UID:
- 44013
- •Concept ID:
- C0022568
- •
- Disease or Syndrome
Inflammation of the cornea.
Osteomyelitis- MedGen UID:
- 10497
- •Concept ID:
- C0029443
- •
- Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Abnormality of the immune system- MedGen UID:
- 867388
- •Concept ID:
- C4021753
- •
- Pathologic Function
An abnormality of the immune system.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Anhidrosis- MedGen UID:
- 1550
- •Concept ID:
- C0003028
- •
- Disease or Syndrome
Inability to sweat.
Lichenification- MedGen UID:
- 452108
- •Concept ID:
- C0023653
- •
- Pathologic Function
Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Poor wound healing- MedGen UID:
- 377525
- •Concept ID:
- C1851789
- •
- Finding
A reduced ability to heal cutaneous wounds.
Acral ulceration- MedGen UID:
- 1648438
- •Concept ID:
- C4732740
- •
- Finding
A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.
Corneal ulceration- MedGen UID:
- 40486
- •Concept ID:
- C0010043
- •
- Disease or Syndrome
Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
Recurrent corneal erosions- MedGen UID:
- 56353
- •Concept ID:
- C0155119
- •
- Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
Opacification of the corneal stroma- MedGen UID:
- 602191
- •Concept ID:
- C0423250
- •
- Finding
Reduced transparency of the stroma of cornea.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system